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FERMT2 FERM domain containing kindlin 2 [ Homo sapiens (human) ]

Gene ID: 10979, updated on 11-Apr-2024

Summary

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Official Symbol
FERMT2provided by HGNC
Official Full Name
FERM domain containing kindlin 2provided by HGNC
Primary source
HGNC:HGNC:15767
See related
Ensembl:ENSG00000073712 MIM:607746; AllianceGenome:HGNC:15767
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MIG2; KIND2; mig-2; UNC112; PLEKHC1; UNC112B
Summary
Enables several functions, including actin binding activity; phosphatidylinositol-3,4,5-trisphosphate binding activity; and type I transforming growth factor beta receptor binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of cell differentiation; and positive regulation of cellular component biogenesis. Acts upstream of or within cell adhesion and protein localization to cell junction. Located in cytosol; focal adhesion; and nucleoplasm. Is extrinsic component of cytoplasmic side of plasma membrane. Part of adherens junction and plasma membrane. Biomarker of acute myeloid leukemia. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 84.8), endometrium (RPKM 56.1) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
14q22.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (52857273..52951050, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (47065165..47158990, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (53323991..53417768, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8397 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr14:53257919-53258432 and GRCh37_chr14:53258433-53258947 Neighboring gene uncharacterized LOC105370500 Neighboring gene COP9 signalosome subunit 9 pseudogene Neighboring gene glucosamine-phosphate N-acetyltransferase 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53301633-53302238 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53302239-53302843 Neighboring gene Sharpr-MPRA regulatory region 8176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53350617-53351142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53351143-53351668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8398 Neighboring gene Sharpr-MPRA regulatory region 10339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5751 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:53418467-53419045 Neighboring gene NADH:ubiquinone oxidoreductase subunit B3 pseudogene 3 Neighboring gene DDHD domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5752

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Alzheimer's risk factor FERMT2 promotes the progression of colorectal carcinoma via Wnt/β-catenin signaling pathway and contributes to the negative correlation between Alzheimer and cancer. Xia W, et al. PLoS One, 2022. PMID 36480537, Free PMC Article
  2. Kindlin-2 Promotes Chondrogenesis and Ameliorates IL-1beta-Induced Inflammation in Chondrocytes Cocultured with BMSCs in the Direct Contact Coculture System. Chen Z, et al. Oxid Med Cell Longev, 2022. PMID 35450413, Free PMC Article
  3. Kindlin-2 promoted the progression of keloids through the Smad pathway and Fas/FasL pathway. Huang S, et al. Exp Cell Res, 2021 Nov 1. PMID 34492266
  4. Kindlin-2 Mediates Mechanical Activation of Cardiac Myofibroblasts. Godbout E, et al. Cells, 2020 Dec 17. PMID 33348602, Free PMC Article
  5. Alzheimer's genetic risk factor FERMT2 (Kindlin-2) controls axonal growth and synaptic plasticity in an APP-dependent manner. Eysert F, et al. Mol Psychiatry, 2021 Oct. PMID 33144711, Free PMC Article

See all (137) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Kindlin-2 regulates colonic cancer stem-like cells survival and self-renewal via Wnt/beta-catenin mediated pathway.
    Title: Kindlin-2 regulates colonic cancer stem-like cells survival and self-renewal via Wnt/β-catenin mediated pathway.
  2. Kindlin-2 controls angiogenesis through modulating Notch1 signaling.
    Title: Kindlin-2 controls angiogenesis through modulating Notch1 signaling.
  3. Parkin ubiquitination of Kindlin-2 enables mitochondria-associated metastasis suppression.
    Title: Parkin ubiquitination of Kindlin-2 enables mitochondria-associated metastasis suppression.
  4. Alzheimer's risk factor FERMT2 promotes the progression of colorectal carcinoma via Wnt/beta-catenin signaling pathway and contributes to the negative correlation between Alzheimer and cancer.
    Title: Alzheimer's risk factor FERMT2 promotes the progression of colorectal carcinoma via Wnt/β-catenin signaling pathway and contributes to the negative correlation between Alzheimer and cancer.
  5. Kindlin-2 promotes Src-mediated tyrosine phosphorylation of androgen receptor and contributes to breast cancer progression.
    Title: Kindlin-2 promotes Src-mediated tyrosine phosphorylation of androgen receptor and contributes to breast cancer progression.
  6. Kindlin-2 Promotes Chondrogenesis and Ameliorates IL-1beta-Induced Inflammation in Chondrocytes Cocultured with BMSCs in the Direct Contact Coculture System.
    Title: Kindlin-2 Promotes Chondrogenesis and Ameliorates IL-1beta-Induced Inflammation in Chondrocytes Cocultured with BMSCs in the Direct Contact Coculture System.
  7. YBX1 knockdown induces renal cell carcinoma cell apoptosis via Kindlin-2.
    Title: YBX1 knockdown induces renal cell carcinoma cell apoptosis via Kindlin-2.
  8. Alzheimer's genetic risk factor FERMT2 (Kindlin-2) controls axonal growth and synaptic plasticity in an APP-dependent manner.
    Title: Alzheimer's genetic risk factor FERMT2 (Kindlin-2) controls axonal growth and synaptic plasticity in an APP-dependent manner.
  9. Kindlin-2 promoted the progression of keloids through the Smad pathway and Fas/FasL pathway.
    Title: Kindlin-2 promoted the progression of keloids through the Smad pathway and Fas/FasL pathway.
  10. Kindlin-2 Mediates Mechanical Activation of Cardiac Myofibroblasts.
    Title: Kindlin-2 Mediates Mechanical Activation of Cardiac Myofibroblasts.
Submit: New GeneRIF Correction See all GeneRIFs (68)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34213, FLJ44462, DKFZp686G11125

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SMAD binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables actin binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables actin filament binding IEA
Inferred from Electronic Annotation
more info
  
enables integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables type I transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in adherens junction maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell adhesion IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in focal adhesion assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in integrin activation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in integrin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in limb development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of vascular permeability IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of integrin activation IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of mesenchymal stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of myosin light chain kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein localization to nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of substrate adhesion-dependent cell spreading IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of wound healing, spreading of epidermal cells IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein localization to cell junction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell shape IEA
Inferred from Electronic Annotation
more info
  
involved_in substrate adhesion-dependent cell spreading ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in I band IEA
Inferred from Electronic Annotation
more info
  
located_in adherens junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
  
located_in cell junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in focal adhesion HDA PubMed 
is_active_in focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in focal adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lamellipodium membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in stress fiber IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
fermitin family homolog 2
Names
PH domain-containing family C member 1
fermitin family member 2
kindlin 2
mitogen inducible gene 2 protein
mitogen inducible gene-2
pleckstrin homology domain containing, family C (with FERM domain) member 1
pleckstrin homology domain containing, family C member 1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001134999.2 → NP_001128471.1  fermitin family homolog 2 isoform 2

    See identical proteins and their annotated locations for NP_001128471.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an additional in-frame coding exon compared to variant 1, resulting in a longer isoform (2) with an internal 7 aa segment missing in isoform 1.
    Source sequence(s)
    AL139317, BC011125, BC017327, BX161467
    Consensus CDS
    CCDS45107.1
    UniProtKB/TrEMBL
    A8K6S3
    Related
    ENSP00000342858.4, ENST00000343279.8
    Conserved Domains (6) summary
    smart00295
    Location:241 → 324
    B41; Band 4.1 homologues
    cd01237
    Location:373 → 497
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:574 → 665
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    cd17181
    Location:17 → 96
    FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)
    cd17184
    Location:97 → 277
    FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)
    pfam00373
    Location:504 → 580
    FERM_M; FERM central domain

  2. NM_001135000.2 → NP_001128472.1  fermitin family homolog 2 isoform 3

    See identical proteins and their annotated locations for NP_001128472.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an additional in-frame coding exon and is missing the 3' terminal exon compared to variant 1. This results in a shorter isoform (3) with a distinct C-terminus and an internal 7 aa segment missing in isoform 1.
    Source sequence(s)
    AL139317, BC017327, BX161467
    Consensus CDS
    CCDS45108.1
    UniProtKB/TrEMBL
    A8K6S3
    Related
    ENSP00000382243.3, ENST00000399304.7
    Conserved Domains (4) summary
    smart00295
    Location:241 → 324
    B41; Band 4.1 homologues
    cd01237
    Location:373 → 497
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    pfam00373
    Location:509 → 580
    FERM_M; FERM central domain
    cl17171
    Location:574 → 631
    PH-like; Pleckstrin homology-like domain

  3. NM_006832.3 → NP_006823.1  fermitin family homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_006823.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
    Source sequence(s)
    AL139317, BC011125, BC017327, BX161467
    Consensus CDS
    CCDS9713.1
    UniProtKB/Swiss-Prot
    B5TJY2, Q14840, Q86TY7, Q96AC1
    UniProtKB/TrEMBL
    A8K6S3
    Related
    ENSP00000340391.3, ENST00000341590.8
    Conserved Domains (6) summary
    smart00295
    Location:241 → 324
    B41; Band 4.1 homologues
    cd01237
    Location:373 → 497
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:567 → 658
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    cd17181
    Location:17 → 96
    FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)
    cd17184
    Location:97 → 277
    FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)
    pfam00373
    Location:504 → 573
    FERM_M; FERM central domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    52857273..52951050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720010.4 → XP_006720073.1  fermitin family homolog 2 isoform X3

    See identical proteins and their annotated locations for XP_006720073.1

    UniProtKB/TrEMBL
    A8K6S3
    Conserved Domains (5) summary
    cd01237
    Location:373 → 497
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:582 → 673
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00169
    Location:381 → 476
    PH; PH domain
    pfam00373
    Location:509 → 588
    FERM_M; FERM central domain
    cl09511
    Location:283 → 326
    FERM_B-lobe; FERM domain B-lobe

  2. XM_005267285.4 → XP_005267342.1  fermitin family homolog 2 isoform X4

    See identical proteins and their annotated locations for XP_005267342.1

    UniProtKB/TrEMBL
    A8K6S3
    Conserved Domains (6) summary
    smart00295
    Location:252 → 335
    B41; Band 4.1 homologues
    cd01237
    Location:384 → 508
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:578 → 669
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    cd17181
    Location:17 → 96
    FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)
    cd17184
    Location:97 → 288
    FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)
    pfam00373
    Location:533 → 584
    FERM_M; FERM central domain

  3. XM_006720009.4 → XP_006720072.1  fermitin family homolog 2 isoform X2

    See identical proteins and their annotated locations for XP_006720072.1

    UniProtKB/TrEMBL
    A8K6S3
    Related
    ENSP00000450741.1, ENST00000554152.5
    Conserved Domains (6) summary
    smart00295
    Location:252 → 335
    B41; Band 4.1 homologues
    cd01237
    Location:384 → 508
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:585 → 676
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    cd17181
    Location:17 → 96
    FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)
    cd17184
    Location:97 → 288
    FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)
    pfam00373
    Location:521 → 591
    FERM_M; FERM central domain

  4. XM_006720008.4 → XP_006720071.1  fermitin family homolog 2 isoform X1

    See identical proteins and their annotated locations for XP_006720071.1

    UniProtKB/TrEMBL
    A8K6S3
    Conserved Domains (5) summary
    cd01237
    Location:384 → 508
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:593 → 684
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00169
    Location:392 → 487
    PH; PH domain
    pfam00373
    Location:520 → 599
    FERM_M; FERM central domain
    cl09511
    Location:294 → 337
    FERM_B-lobe; FERM domain B-lobe

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    47065165..47158990 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375284.1 → XP_054231259.1  fermitin family homolog 2 isoform X3

  2. XM_054375285.1 → XP_054231260.1  fermitin family homolog 2 isoform X4

  3. XM_054375283.1 → XP_054231258.1  fermitin family homolog 2 isoform X2

  4. XM_054375282.1 → XP_054231257.1  fermitin family homolog 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96AC1.1 GenPept UniProtKB/Swiss-Prot:Q96AC1

Gene LinkOut

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